Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

Autor: Nicholas, Adeline K, Serra, Eva G, Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M, Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G, Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F, Gregory, John W, Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R, Chatterjee, V Krishna K, Anderson, Carl A, Schoenmakers, Nadia

Publikováno v: The Journal of Clinical Endocrinology and Metabolism
Nicholas, A K, Serra, E G, Cangul, H, Alyaarubi, S, Ullah, I, Schoenmakers, E, Deeb, A, Habeb, A M, Almaghamsi, M, Peters, C, Nathwani, N, Aycan, Z, Saglam, H, Bober, E, Dattani, M, Shenoy, S, Murray, P G, Babiker, A, Willemsen, R, Thankamony, A, Lyons, G, Irwin, R, Padidela, R, Tharian, K, Davies, J H, Puthi, V, Park, S-M, Massoud, A F, Gregory, J W, Albanese, A, Pease-Gevers, E, Martin, H, Brugger, K, Maher, E R, Chatterjee, V K K, Anderson, C A & Schoenmakers, N 2016, ' Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ ', The Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 12, pp. 4521-4531 . https://doi.org/10.1210/jc.2016-1879

Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0db38b423aebd37dd442bfb2eec37222
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Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

Autor: Nicholas, Adeline K, Serra, Eva G, Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M, Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G, Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F, Gregory, John W, Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R, Chatterjee, V Krishna K, Anderson, Carl A, Schoenmakers, Nadia

CONTEXT: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a259ea932fd7575d80fea11456e147f0